rs1057518951, ARID1B

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
Nail dysplasia
CUI: C1834405
Disease: Nail dysplasia
2 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.827 0.160 6 156829296 stop gained C/T snv 0.700 0